SLC35A1-CDG

SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 28856833
(5650519)
 Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, , Ensslen M, Freeze HH.
Am J Med Genet A. 2017;173(11):2906-2911.
Encephalopathy
p|SUB|E|196|K p|SUB|T|156|R;RS#:578205635 rs1554166844 rs578205635
Animals Brain Diseases Child Cricetulus Females Flow Cytometry Golgi Apparatus Hamsters Homo sapiens Mutation N-Acetylneuraminic Acid Nucleotide Transport Proteins Whole Exome Sequencing
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0001873 Thrombocytopenia Very frequent (99-80%)
HP:0001875 Neutropenia Very frequent (99-80%)
HP:0001892 Abnormal bleeding Very frequent (99-80%)
HP:0001902 Giant platelets Very frequent (99-80%)
HP:0001933 Subcutaneous hemorrhage Very frequent (99-80%)
HP:0002090 Pneumonia Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0003010 Prolonged bleeding time Very frequent (99-80%)
HP:0011883 Abnormal platelet granules Very frequent (99-80%)
HP:0012143 Abnormal megakaryocyte morphology Very frequent (99-80%)
HP:0012418 Hypoxemia Very frequent (99-80%)
HP:0040223 Pulmonary hemorrhage Very frequent (99-80%)
HP:0100658 Cellulitis Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC35A1 solute carrier family 35 member A1 10559